Summary
A comparison of the patterns of chromosome breakage and rearrangements was made using lymphocytes from one patient with Bloom's syndrome and one with Fanconi's anemia. Chromatid and isochromatid gaps and breaks were increased in frequency in both conditions. In Fanconi's anemia, more aberrations per aberrant cell occurred than in Bloom's syndrome. The relative numbers of the various classes of interchanges and the chromosome regions affected differed strikingly. In Bloom's syndrome, homologous chromosomes had formed most of the interchanges, while in Fanconi's anemia non-homologous chromosomes were preferentially involved in the interchanges. The patterns formed by brakage, including breaks involved in interchanges, show a non-random distribution of the lesions in both conditions.
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A nine-year old boy, identified as 32 (mi. Ko.) in reference [6].
A two-year old boy, studied here through the generous cooperation of Drs. Dorothy Warburton and J. A. Wolf.
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Supported by the Deutsche Forschungsgemeinschaft and by research grants from the National Institutes of Health (Nos. HD 04134 und HL 09011) and the American Cancer Society, Inc.
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Schroeder, T.M., German, J. Bloom's syndrome and Fanconi's anemia: Demonstration of two distinctive patterns of chromosome disruption and rearrangement. Humangenetik 25, 299–306 (1974). https://doi.org/10.1007/BF00336905
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DOI: https://doi.org/10.1007/BF00336905